RGD:14693232 Rat Genome Database

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Variant: RGD:14693232 -  Homo sapiens

RGD ID: 14693232
RS ID: rs762814574
ClinVar ID: CV620685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CRYBA4  CRYBB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 27,008,118
GRCh38 22 26,612,154
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001887.4:c.217C>T
NG_009826.1:g.10874C>T
NC_000022.11:g.26612154G>A
NC_000022.10:g.27008118G>A
More... 		12/25/2018 nonsense uncertain significance CATARACT 17, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE; CATARACT 17, PULVERULENT; Cataract, congenital nuclear, autosomal recessive 3; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CRYBB1
Accession:XM_011529899
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBB1
Accession:NM_001887
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 73
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGEC
SNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFK
GNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLE
GSFPVLATEPPK*

Gene Symbol:CRYBA4
Accession:XM_006724140
Location:INTRON

Gene Symbol:CRYBA4
Accession:NM_001886
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000778652 CLINVAR
  RCV003424334 CLINVAR
dbSNP (RS) rs762814574 CLINVAR
MedGen C3661900 CLINVAR
  C3888124 CLINVAR
NCBI Gene CRYBA4 CLINVAR
  CRYBB1 CLINVAR
OMIM 123631 CLINVAR
  600929 CLINVAR
  611544 CLINVAR